Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort

Abstract Purpose To determine the relationship between positive family history (FH) and primary open-angle glaucoma (POAG) diagnosis and clinical presentation in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) cohort. Methods FH of POAG in first-degree relatives was assessed in 2365 subjects in the POAAGG cohort. A standardized interview was used to assess FH of glaucoma, demographic characteristics, lifestyle choices, and medical and ocular comorbidities. Results Positive FH was associated with increased risk of POAG (age-adjusted odds ratio and 95% confidence interval 3.4[2.8, 4.1]). In age-adjusted analysis among POAG cases, positive FH was associated with younger age ( P 0.001), female gender ( P .001), hypertension ( P= .006), use of hypertension medication ( P= .03), and prior glaucoma surgery ( P= .02). Cases with positive FH also had thicker retinal nerve fiber layers ( P=. 03). Conclusions The risk conferred by positive FH suggests strong genetic underpinnings for some patients with this disease, which will be investigated by genome-wide association studies and whole exome sequencing.